Found: 24
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The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the ‘open’ conformation and suppresses cell growth and motility.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 825, doi. 10.1093/hmg/10.8.825
- By:
- Publication type:
- Article
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791
- By:
- Publication type:
- Article
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 797, doi. 10.1093/hmg/10.8.797
- By:
- Publication type:
- Article
Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 881, doi. 10.1093/hmg/10.8.881
- By:
- Publication type:
- Article
Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 807, doi. 10.1093/hmg/10.8.807
- By:
- Publication type:
- Article
‘Mitotic drive’ of expanded CTG repeats in myotonic dystrophy type 1 (DM1).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 855, doi. 10.1093/hmg/10.8.855
- By:
- Publication type:
- Article
Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 845, doi. 10.1093/hmg/10.8.845
- By:
- Publication type:
- Article
Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 815, doi. 10.1093/hmg/10.8.815
- By:
- Publication type:
- Article
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 875, doi. 10.1093/hmg/10.8.875
- By:
- Publication type:
- Article
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 835, doi. 10.1093/hmg/10.8.835
- By:
- Publication type:
- Article
Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 807, doi. 10.1093/hmg/10.8.807
- By:
- Publication type:
- Article
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
- By:
- Publication type:
- Article
Meta-analysis for linkage to asthma and atopy in the chromosome 5q31–33 candidate region.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 891, doi. 10.1093/hmg/10.8.891
- By:
- Publication type:
- Article
Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1 , -DRB1 disease loci.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 881, doi. 10.1093/hmg/10.8.881
- By:
- Publication type:
- Article
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791
- By:
- Publication type:
- Article
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
- By:
- Publication type:
- Article
Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 891, doi. 10.1093/hmg/10.8.891
- By:
- Publication type:
- Article
The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the 'open' conformation and suppresses cell growth and motility.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 825, doi. 10.1093/hmg/10.8.825
- By:
- Publication type:
- Article
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 797, doi. 10.1093/hmg/10.8.797
- By:
- Publication type:
- Article
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 835, doi. 10.1093/hmg/10.8.835
- By:
- Publication type:
- Article
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 875, doi. 10.1093/hmg/10.8.875
- By:
- Publication type:
- Article
Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 815, doi. 10.1093/hmg/10.8.815
- By:
- Publication type:
- Article
Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 845, doi. 10.1093/hmg/10.8.845
- By:
- Publication type:
- Article
'Mitotic drive' of expanded CTG repeats in myotonic dystrophy type 1 (DM1).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 855, doi. 10.1093/hmg/10.8.855
- By:
- Publication type:
- Article